A Possible Case of Alpha-Beta Thalassaemia

Bernini, L. F.; Colucci, C F; Michele, D. De; Piomelli, Sergio; Siniscalco, M.

doi:10.1159/000151199

Cited by 5 publications

(5 citation statements)

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“…Therefore, in cases of thalassemia intermedia associated with slightly or moderately elevated Hb-F, this possibility should be considered. On the other hand, in contrast to the patients presented here and the one of Be r n in i et al [9], there are some papers describing severe clinical and hematological pictures of this /5-thalassemia syndrome. Sh e t t in i and M el o n i [20] reported a severe case of Cooley's anemia associated with a high level of Hb-F.…”

Section: Discussioncontrasting

confidence: 78%

“…B e r n in i et al [9], F essa s [12], A ksoy and E r d em [5], and W e a t h e rall and C le g g [25] have already noted the presence of some /1-thalasse mia genes compatible with normal levels of Hbs.A* and F [7,13]. B e r n i n i et al [9] published a case of thalassemia intermedia, one of whose par ents showed normal levels of Hbs.A2 and F. The authors postulated that the propositus was carrying two different allelomorphic variants of /5-thal assemia, one of them being associated with normal levels of Hbs.A2 and F. Similarly F essas emphasized the presence of /1-thalassemia genes caus ing no alterations in the level of Hbs.A2 and F, among subdivisions of /»-thalassemia genes [12,13]. On the other hand, it is difficult to distin guish a /Mhalassemia heterozygote with normal levels of Hbs.A2 and F from an a-thalassemia heterozygote.…”

Section: Discussionmentioning

confidence: 99%

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Different Types of Beta-Thalassemia Intermedia

Aksoy¹,

Dınçol²,

Erdem³

1978

Acta Haematol

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20 patients with β-thalassemia intermedia classified according to the results of genetic studies are presented. (1) 9 patients with β-thalassemia intermedia homozygous for β-thalassemia with increased Hb-A₂ are reported. (2) 8 patients with β-thalassemia intermedia, 3 homozygous for β-thalassemia with normal levels of Hbs.A₂ and F, 5 heterozygous for both this and β-thalassemia with increased Hb-A₂ are presented. (3) 2 families with β-thalassemia intermedia heterozygous for both β-thalassernia with increased Hb-A₂ and ‘silent’ β-thalassemia are reported. Two different varieties are presented.

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Section: Discussioncontrasting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Different Types of Beta-Thalassemia Intermedia

Aksoy¹,

Dınçol²,

Erdem³

1978

Acta Haematol

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“…There have been several reported families in which alp-thalassaemia has been suspected (Fessas, 1961;Bernini et al, 1962;Pearson, 1966;Wasi et al, 1969;Kan & Nathan, 1970). The haematological findings, together with the relative and absolute amounts of haemoglobin A2 observed in the propositus and II.1, were very similar to those found in a Negro family by Pearson (1966).…”

Section: So9supporting

confidence: 69%

The Clinical and Biosynthetic Characterization of αβ‐Thalassaemia

et al. 1972

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A Cypriot family is described in which three thalassaemia genes, a-thalassaemia I, a-thalassaemia 2, and B-thalassaemia, are segregating. Two siblings are heterozygous for both a-thalassaeniia I and B-thalassaemia while a third child has typical haemoglobin H disease. The a-thalassaemia I/B-thalassaemia combination, which is associated with an a//? chain production ratio of unity, produces a moderate degree of anaemia with marked hypochromia and morphological changes of the red cells together with increased rates of flux of potassium across the membranes, but the red cell survival is normal. These changes in red cell morphology and metabolism are very similar to those found in the sibling with haemoglobin H disease in whom there is gross imbalance of globin chain synthesis and shortened red cell survival. These results suggest that imbalanced globin chain production is the primary cause of shortened red cell survival in thalassaemia and that changes in membrane permeability are probably of secondary importance and may, at least in part, result from factors other than globin chain imbalance.Studies of the morphology and haemoglobin synthesis of thalassaemic bone marrow and reticulocytes indicate that imbalanced production of the globin chains of haemoglobin A, with precipitation of the chain which is produced in excess, is a phenomenon common to all the thalassaemia syndronies (Fessas, 1963; Weatherall et a!, 1965; Nathan & Gunn, 1966).It seems likely, therefore, that the anaemia of thalassaemia results from several mechanisms including a reduced rate of haemoglobin A synthesis and a shortened red cell survival due to the deleterious effect of the precipitated globin.It is still not certain how precipitation of globin chains causes a shortening of red cell survival but it seems likely that the main mechanism is mechanical, and a consequence of the production of a rigid inclusion body which causes damage to the red cell during its passage th,rough the spleen and other parts of the reticuloendothelial system. There is also evidence that the red cells in thalassaemia are 'leaky', with increased rates of flux of potassium across the membrane (Nathan & Gunn, 1966;Nathan et al, 1969). The reason for this change in membrane permeability is not known but it may result from simple mechanical damage or from the interaction of precipitating globin chains with membrane SH groups, a mech-497 498 H. H. M. Knox-Macaday et a] anism already proposed for haemolysis in the unstable haemoglobin disorders (Jacob ef a2, 1968). Furthermore it is not known how much these changes in membrane function contribute towards the haemolytic component of the anaemia of thalassaemia.A clearer picture of the part played by the reduced rate of synthesis of haemoglobin A in the production of the anaemia of thalassaemia could be obtained from the study of patients in whom there is an equal reduction in the rates of synthesis of both ct and Pchains, so excluding the component of chain imbalance in the production of the associated anaemia. The ideal ...

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“…The association of a-and fl-thalassaemia in the same patient has been determined by genetic and globin chain synthesis studies (Fessas, 1961;Bernini et al, 1962;Pearson, 1966;Wasi et al, 1969;Kan and Nathan, 1970;Knox-Macaulay et al, 1972). The coexistence of these 2 different forms of thalassaemia results in attenuation of the clinical effects.…”

Section: Discussionmentioning

confidence: 99%

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.

Musumeci¹,

Schilirò²,

Pizzarelli³

et al. 1978

Journal of Medical Genetics

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SUMMARY A Sicilian family is described in which the a-thalassaemia gene is interacting in several members with fl-thalassaemia resulting in a balanced l/f chain production ratio. In one patient, affected by homozygous fl-thalassaemia, the presence of a-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the a/non-a ratio, and a lower level of Hb F. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.The term 'thalassaemia intermedia' is used to describe those forms of thalassaemia of intermediate clinical and haematological severity between thalassaemia major and asymptomatic carriers. These forms are a genetically heterogeneous group which usually result from the interaction between 2 different thalassaemia genes, or else from the combination of ,-thalassaemia with genes responsible for structural anomalies of the globin . In particular, it has been observed that the interaction between a-and ,B-thalassaemia gives a less severe clinical picture than homozygous ,-thalassaemia (Kan and Nathan, 1970). In the case reported by Kan and Nathan, one of the parents was a carrier of f-thalassaemia with characteristic alteration of red cell morphology, high Hb A2, and unbalanced synthesis of a and , / chains. The other parent, though presenting the morphological appearance off,-thalassaemia, with increased Hb A2, had a balanced a/fl? synthetic ratio. Kan and Nathan concluded that in the propositus the presence of the athalassaemia gene could modify the clinical manifestation of the disease, with normal survival and minimal clinical symptoms. The propositus showed, in fact, slight enlargement of the liver and spleen, and his haemoglobin ranged from 9 to 11 g/dl. He seldom needed blood transfusions.There are 2 forms of a-thalassaemia trait: one without alteration of red cell morphology (a-thalassaemia 2) and only slight imbalance of the a/l ratio,

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A Possible Case of Alpha-Beta Thalassaemia

Cited by 5 publications

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Different Types of Beta-Thalassemia Intermedia

Different Types of Beta-Thalassemia Intermedia

The Clinical and Biosynthetic Characterization of αβ‐Thalassaemia

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.

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